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rs121912300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912300(C;C)
Make rs121912300(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154773143
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs121912300
ebirs121912300
HLIrs121912300
Exacrs121912300
Varsomers121912300
Maprs121912300
PheGenIrs121912300
hapmaprs121912300
1000 genomesrs121912300
hgdprs121912300
ensemblrs121912300
gopubmedrs121912300
geneviewrs121912300
scholarrs121912300
googlers121912300
pharmgkbrs121912300
gwascentralrs121912300
openSNPrs121912300
23andMers121912300
23andMe allrs121912300
SNP Nexus

SNPshotrs121912300
SNPdbers121912300
MSV3drs121912300
GWAS Ctlgrs121912300
Max Magnitude0
ClinVar
Risk rs121912300(C;C)
Alt rs121912300(C;C)
Reference rs121912300(T;T)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154001418T>C
CLNSRC UniProtKB (variants)
CLNACC RCV000032182.2,


[PMID 10364516OA-icon.png] X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.